Journal of Blood Medicine最新文献

Background: Anemia is a widespread illness. It is often associated with an electrolyte imbalance. The correlation between electrolytes and anemia is crucial. Electrolyte balance is essential for maintaining the shape and function of red blood cells (RBC), including the exchange of O₂ and CO₂. Therefore, this study aimed to investigate the correlation between RBC indices and electrolyte imbalance in anemic patients, Ibb City, Yemen.

Methods: This study included 400 participants, consisting of 200 anemic patients and 200 non-anemic (controls). Approximately 5 mL of blood was collected directly from newly diagnosed anemic treatment-naïve patients and divided into tubes with and without EDTA to estimate RBC indices and serum electrolytes (sodium, potassium, chloride, calcium, and magnesium) directly.

Results: Red cell indices (Hb, RBC, MCV, HCT, MCH, and MCHC) and electrolyte levels (potassium, calcium, and magnesium) were decreased significantly among patients compared to controls. Serum sodium was not significantly different. Notably, levels of chloride were considerably higher in anemic individuals. Odds ratio (OR) of hypo-electrolytemia with anemia, including hypo-magnesemia (OR=4.928, 95% CI: 2.278-10.47), hypo-kalemia (OR=2.967, 95% CI: 1.551-5.581), and hypo-calcemia (OR=2.833, 95% CI: 1.887-4.236), was significantly higher in anemic patients compared to controls. In contrast, OR of hyponatremia did not show a significant difference (OR =1.438, 95% CI: 0.9522-2.143). Notably, hyper-natremia was identified in the patient group, with no existence in controls, resulting in an infinite odds ratio (OR=∞, 95% CI: 0.5262-∞). Additionally, there were significant positive correlations between sodium and calcium levels with Hb, RBC, and HCT, as well as between magnesium levels with MCV and MCH. In contrast, significant negative correlations were found between chloride, magnesium, and calcium levels and Hb, RBC, and MCV, respectively.

Conclusion: The study concluded a correlation and a significant disparity in serum electrolytes, particularly calcium, potassium, magnesium, and chloride, among anemic patients.

Purpose: This study aimed to determine the prevalence, morphological classification, and factors associated with anemia among neonates at Soroti Regional Referral Hospital neonatal unit.

Patients and methods: We conducted a hospital-based cross-sectional study among 239 neonates between June and August 2025. Data on sociodemographic characteristics of neonates and mothers were collected using structured questionnaires and a review of medical records. Venous blood was collected from mothers during labor and cord blood was collected within 30 minutes of delivery or in situation where cord blood was not collected, then venous blood was collected from neonates. Hemoglobin estimation was done using a Nihon Kohden automated analyser. Neonates with umbilical cord hemoglobin <13 g/dL and mothers with venous blood haemoglobin <11 g/dL were classified as anemic. For anemic neonates, Giemsa-stained blood smears were examined to determine morphological type of anemia and screen for malaria parasites. Bivariate and multivariate logistic regression analysis were employed to identify factors associated with neonatal anemia, with a p-value ≤0.05 considered statistically significant.

Results: The median age for neonates in days was 1 day and ranged from 0 to 27 days. The prevalence of neonatal anemia was 11.7% (95% CI: 7.6-15.8). Normocytic normochromic anemia was the most frequent morphological type (78.6%), followed by normocytic hypochromic (10.7%) and microcytic hypochromic anemia (10.7%). Multivariate analysis identified four factors independently associated with neonatal anemia: maternal history of anemia (AOR: 5.39 [95% CI: 1.15-25.32], p=0.033), lack of iron-folate supplementation during pregnancy (AOR: 6.62 [95% CI: 2.23-19.7], p=0.001), infrequent consumption of fruits and vegetables (AOR: 6.52 [95% CI: 1.23-34.48], p=0.027), and the presence of maternal anemia at delivery (AOR: 5.48 [2.11-14.21], p<0.001).

Conclusion: This study confirms that neonatal anemia is a persistent health issue in eastern Uganda. The identified risk factors are primarily rooted in maternal health and nutrition. Our findings underscore the imperative for integrative antenatal strategies that combine nutritional education, promotion of iron-folate supplementation, and proactive management of maternal anemia to effectively reduce the burden of neonatal anemia.

Purpose: Severe congenital protein C deficiency (SCPCD) is a rare, life-threatening disorder. Plasma-derived protein C concentrate is recommended for the acute and long-term management of SCPCD; however, data in Japanese patients are lacking. In this study, the pharmacokinetics (PK) and safety of protein C concentrate were investigated in a Japanese population.

Patients and methods: This study was an open-label, phase 1/2, nonrandomized, noncontrolled, multicenter clinical trial in Japanese patients with SCPCD (ClinicalTrials.gov: NCT04984889). Patients received a single intravenous dose (80 IU/kg) of human plasma-derived protein C concentrate. The primary endpoints were plasma protein C activity levels and PK parameters. Secondary endpoints for safety included adverse events (AEs).

Results: All five enrolled patients (mean age, 15.2 years; mean weight, 34.0 kg) received the predefined dose of protein C concentrate and were included in PK and safety analyses. The geometric mean (coefficient of variation [CV]%) maximum concentration (C_max) was 1.679 IU/mL (31.7%) and the geometric mean (CV%) area under the curve (AUC_inf) was 21.88 IU·h/mL (47.1%). The median (range) half-life for protein C in plasma was 10.7 (7.35-12.4) hours. C_max and AUC_inf tended to be higher in older patients (≥20 years old) than in younger patients (<20 years old), whereas half-life was similar regardless of age. One patient had a mild treatment-related AE of pyrexia. No serious AEs or deaths were reported.

Conclusion: PK parameters for protein C concentrate in Japanese patients with SCPCD were determined to be comparable to studies in western populations. A single intravenous 80 IU/kg dose was well tolerated, with no serious treatment-related AEs.

Background: Thrombotic thrombocytopenic purpura (TTP) is a life-threatening blood disorder resulting from ADAMTS13 deficiency, caused by mutations in the ADAMTS13 gene in congenital TTP (cTTP), and by neutralizing antibodies against ADAMTS13 in immune-mediated TTP (iTTP). This systematic review summarizes available economic evaluations, healthcare resource utilization (HCRU), cost, utility, and health-related quality of life (HRQoL) literature in TTP, with a focus on cTTP. Given the limited availability of cTTP-specific data, broader TTP evidence was also reviewed to infer potential implications for cTTP where appropriate.

Methods: Three systematic literature searches were conducted in January 2024 in accordance with PRISMA guidelines, each tailored to identify studies reporting economic evaluations, HCRU/cost data, and utility/HRQoL data respectively. For the economic evaluation and utility/HRQoL reviews, inclusion criteria were broadened to include studies reporting data on iTTP and unspecified TTP from which findings for cTTP were inferred.

Results: In total 431, 989, and 849 records were identified for the economic evaluation, HCRU/cost, and utility/HRQoL reviews, respectively. No economic evaluations were identified for treatments in cTTP populations. Eight economic studies (all in iTTP) were included. Overall, 5 studies found caplacizumab to be cost-effective, whereas 3 did not, highlighting variability across model assumptions and healthcare settings. Six HCRU/cost studies reported that cTTP was associated with frequent hospital interactions, missed work time, and high costs. Fourteen studies (1 in cTTP, 10 in iTTP, and 3 in unspecified TTP) were included in the utility/HRQoL review and showed that TTP is associated with reduced utility scores and lower HRQoL, irrespective of TTP subtype.

Conclusion: These findings underscore the meaningful patient burden observed across the TTP spectrum and highlight the need for further research to evaluate the cost-effectiveness of emerging therapies in cTTP. However, the predominance of iTTP data reflects ongoing challenges in evidence generation for rare TTP subtypes such as cTTP.

The treatment of patients with PNH has been revolutionized by terminal complement C5 inhibitors, which control intravascular hemolysis and thrombosis, reduce morbidity and mortality, and improve life expectancy to that approaching people without PNH. In recent years, approval of proximal inhibitors provides clinicians and patients with additional treatment options such that patients who have residual anemia, ongoing symptoms affecting quality of life, or are intolerant to terminal C5 inhibition now have options to optimize treatment. Here, we provide five questions to guide clinicians involved in the care of patients with PNH in assessing treatment response on terminal inhibitors and identifying patients who might benefit from therapy adjustments. We also provide insights into additional treatment options.

In the last few years, gene therapy, holding the promise for long-term disease correction through a one-time treatment, has transitioned from experimental research to approved medicine. Several gene therapies are now available for congenital blood disorders, notably for hemophilia and hemoglobinopathies. In this review, we discuss each of the six therapies that now have regulatory approval for treatment in the United States: Roctavian (valoctocogene roxaparvovec) for hemophilia A, Beqvez (fidanacogene elaparvovec) and Hemgenix (etranacogene dezaparvovec) for hemophilia B, Lyfgenia (lovotibeglogene autotemcel) for sickle cell disease, Zynteglo (betibeglogene autotemcel) for β-thalassemia, and Casgevy (exagamglogene autotemcel) for either sickle cell disease or β-thalassemia. The underlying principles for these treatments vary and include both in vivo and ex vivo methods, lentiviral and adeno-associated viral (AAV) vectors, and gene silencing by the CRISPR-Cas9 gene editing system. Consequently, they pose correspondingly disparate risks and benefits when compared to other treatment modalities and to each other. Although long-term effects are not yet entirely understood, given the novelty of these therapies, knowledge on patient outcomes is continuously increasing. Overall, results are very encouraging, often freeing patients from the need for coagulation factor or red blood cell (RBC) infusions, albeit that for some of these diseases there is room for further improvement in terms of safety and therapeutic durability, which may be achieved with next-generation gene therapy products. However, improvements are needed to address issues with durability of results, side effects, and accessibility of these therapies.

Background: Sickle cell disease (SCD) is a genetic blood disorder most prevalent in Eastern and Western Africa. With the high prevalence of SCD in northern Uganda, we set out to document the haematological profile of patients with SCD in Acholi sub-region of northern Uganda.

Methods: This was a cross-sectional study at Gulu University Teaching Hospitals from February to May 2025. Patients with SCD gave blood, which was analysed at GRRH, and the results were shared with their healthcare providers. Logistic regression was done to determine the association between the haematological parameters and hydroxyurea use.

Results: Four hundred eighteen blood samples were analysed. The mean age of the participants was seven years of age, and the median was 5 years of age, ranging from 1 to 28 years of age. About 95% of participants had anaemia, 92.1% erythropenia, and 92.6% low haemtocrit levels. Meanwhile, 47.9% of participants had leucocytosis and 49.1% thrombocytosis. Hydroxyurea use was associated with a normal platelet count (OR=0.35, 95% CI 0.18-0.65, p-value=0.001).

Conclusion: In patients with sickle cell disease, there were increased white blood cells, platelets, and low red blood cells. That may reflect increased haemolytic activities that destroy the sickled red blood cells in low oxygen tension. Hydroxyurea use was associated with normal platelet counts.

Objective: Third-generation cephalosporins are widely used for severe infections but carry thrombocythemia risks complicating therapeutic decisions. Current predictive tools lack accuracy and clinical interpretability. This study aimed to develop an interpretable machine learning (ML) model for thrombocythemia risk stratification during cephalosporin therapy.

Methods: A retrospective cohort of 45,779 adults treated with third-generation cephalosporins (2019-2023) was analyzed. After exclusions (age <18, missing data, baseline platelet anomalies), 25,707 patients were included. Thrombocythemia was defined as platelet count >400×10⁹/L within 30 days post-treatment. Predictors encompassed demographics, comorbidities, medications, and laboratory parameters. Data preprocessing included multiple imputation and stratified partitioning (70% training, 30% testing). Three ML algorithms (XGBoost, Random Forest, LightGBM) were evaluated using ROC-AUC, Brier score, and clinical utility metrics. SHAP analysis provided model interpretability.

Results: XGBoost demonstrated superior performance, achieving the highest test-set discrimination (AUC=0.858, 95% CI:0.814-0.902) and calibration (Brier score=0.0088). SHAP analysis identified Baseline platelet count (PLT), red blood cell count (RBC), creatinine (CRE), daily usage frequency, and sex as key drivers. PLT was the strongest predictor (SHAP range: -1.67 to +1.48), with lower PLT exerting protective effects. RBC and CRE ranked second and third in importance, showing nonlinear risk relationships. Key clinical interactions included amplified risk from malignancies (SHAP=-0.215) and protective effects of female sex (SHAP=-0.194).

Conclusion: This interpretable ML framework enables precise thrombocythemia risk prediction during cephalosporin therapy, balancing algorithmic performance with clinical actionability.

Hemophilia is a lifelong coagulation disorder with varying severity levels, which significantly impacts management strategies. The transition period from pediatric to adult medical system represents a critical stage for ensuring continuous and tailored care. This narrative review synthesizes current evidence on transitional care for hemophilia patients, focusing on nursing-led interventions. A structured search of literature from 2010 to 2024 was conducted, drawing from key databases including PubMed, Embase, and CINAHL, as well as major guideline repositories and professional society publications. The findings from this analysis systematically summarize the challenges and intervention strategies in the transitional period. At the patient level, there are problems such as lack of self-management ability, psychosocial adaptation disorder and treatment compliance decline, particularly among those with severe disease; this period also requires a deliberate shift in responsibility from parents to the young person, a process that requires careful support for both. At the level of medical system, the transition difficulty is exacerbated by the differences between pediatric and adult medical models, the lack of multidisciplinary cooperation and the uneven distribution of resources, all of which hinder seamless care continuity. At present, the effective intervention strategies include: the implementation of structured transition plan, the training of self injection and emergency treatment skills, the provision of psychosocial support, and the establishment of nurse led multidisciplinary cooperation mode. During the transition period, nurses play the core role of assessment planning, education empowerment, coordination advocacy and psychological support. In the future, it is necessary to strengthen the development of digital tools, research on long-term health outcomes and policy support, so as to optimize the transitional nursing system and ensure the continuity of life-long health management of patients across all severity levels. While this review synthesizes global evidence, it is pertinent to note that challenges of resource access, particularly the urban-rural divide in availability of factor concentrates, novel therapies, and home-treatment programs, are often more pronounced in many developing countries, including China. The insights gathered underscore the need for standardized, nurse-coordinated transitional care protocols to inform both clinical practice and healthcare policy, aiming to bridge current gaps in service delivery and improve long-term patient outcomes.

Heparin-induced thrombocytopenia (HIT) is a serious and potentially life-threatening reaction to heparin, affecting 0.1% to 5% of patients. Those with end-stage renal disease face an and even higher risk because of repeated exposure to heparin during dialysis. HIT Type II, an immune-mediated condition, results from antibodies against heparin/platelet factor 4 (PF4) complexes, leading to platelet activation and thromboembolism. We present a 78-year-old woman with end-stage kidney disease (ESRD) who developed HIT Type II after low-molecular-weight heparin (LMWH) and unfractionated heparin (UFH) exposure during hemodialysis. Despite a negative PF4/heparin ELISA, a 4T score of 7 confirmed the presence of clinical HIT. She experienced thrombocytopenia (30×10⁹/L) and severe thrombotic events. Heparin was discontinued, and anticoagulation transitioned to argatroban and later nafamostat mesilate (NM) due to argatroban shortage. Platelet counts normalized (223×10⁹/L), and NM was effective without clotting complications. This case highlights the challenges in HIT diagnosis, emphasizing the role of clinical evaluation over laboratory tests, and underscores the utility of NM as an alternative anticoagulant in resource-limited settings. Key questions remain regarding heparin rechallenge safety, causative agent identification in multi-heparin exposure, and rapid differentiation of HIT from anaphylactoid reactions. Further studies are needed to optimize HIT management in high-risk populations.